Overview
Blepharophimosis-intellectual disability syndrome, Verloes type, is an extremely rare genetic condition that affects multiple parts of the body. The name comes from one of its most recognizable features: blepharophimosis, which means the eye openings are abnormally narrow and small. This condition was first described by the geneticist Dr. Alain Verloes, and it is sometimes referred to simply as Verloes syndrome. People with this syndrome typically have distinctive facial features, including narrow eye openings, a flat nasal bridge, and other subtle differences in facial structure. Intellectual disability is a core feature, ranging from mild to severe, and can affect learning, speech, and daily functioning. Some individuals may also have other birth differences, such as problems with the heart, skeleton, or urinary system. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms. This may include special education support, speech therapy, physical therapy, and regular monitoring by various specialists. Early intervention programs can help children reach their fullest potential. Surgical correction of the narrow eye openings may be considered if vision is affected. The overall treatment approach is supportive and tailored to each person's needs.
Key symptoms:
Narrow eye openings (blepharophimosis)Intellectual disabilityDevelopmental delayFlat nasal bridgeDistinctive facial featuresSpeech and language delaysShort statureSmall head size (microcephaly)Low muscle tone (hypotonia)Droopy eyelids (ptosis)Widely spaced eyesPossible heart defectsPossible skeletal abnormalitiesPossible urinary tract abnormalities
Clinical phenotype terms (32)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Blepharophimosis-intellectual disability syndrome, Verloes type.
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Specialists
View all specialists →No specialists are currently listed for Blepharophimosis-intellectual disability syndrome, Verloes type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Blepharophimosis-intellectual disability syndrome, Verloes type.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the severity of my child's condition, and what developmental outcomes can we expect?,Which therapies (speech, physical, occupational) should we start, and how often?,Are there any heart, kidney, or skeletal problems we need to monitor?,Should other family members be tested for the UBE3B gene change?,Is surgery needed for the narrow eye openings or droopy eyelids?,What educational support services are available for my child?,Are there any clinical trials or research studies we could participate in?
Common questions about Blepharophimosis-intellectual disability syndrome, Verloes type
What is Blepharophimosis-intellectual disability syndrome, Verloes type?
Blepharophimosis-intellectual disability syndrome, Verloes type, is an extremely rare genetic condition that affects multiple parts of the body. The name comes from one of its most recognizable features: blepharophimosis, which means the eye openings are abnormally narrow and small. This condition was first described by the geneticist Dr. Alain Verloes, and it is sometimes referred to simply as Verloes syndrome. People with this syndrome typically have distinctive facial features, including narrow eye openings, a flat nasal bridge, and other subtle differences in facial structure. Intellectua
How is Blepharophimosis-intellectual disability syndrome, Verloes type inherited?
Blepharophimosis-intellectual disability syndrome, Verloes type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blepharophimosis-intellectual disability syndrome, Verloes type typically begin?
Typical onset of Blepharophimosis-intellectual disability syndrome, Verloes type is neonatal. Age of onset can vary across affected individuals.